51022005: Erythropoietic protoporphyria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria

\Autosomal hereditary disorder\Erythropoietic protoporphyria

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital porphyria\Erythropoietic protoporphyria

\Inborn error of metabolism\Erythropoietic protoporphyria

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria
\Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

85017013 Erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

85019011 Erythrohepatic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

85020017 Heme synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

85021018 Magnus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

495877016 Protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

495879018 Haem synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

788876017 Erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5244046017 EPP - erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythropoietic protoporphyria	Is a	Ferrochelatase deficiency	true	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Porphyria	false	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Erythropoietic protoporphyria	Finding site	Body system structure	false	Inferred relationship	Some
Erythropoietic protoporphyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Erythropoietic protoporphyria	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Congenital porphyria	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous erythropoietic protoporphyria	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
X-linked dominant erythropoietic protoporphyria	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some

Reference Sets